Gene: [12q23/IGF1] insulin-like growth factor 1 (somatomedin C); pygmy dwarfism (somatomedin C deficiency?, IGF1 deficiency?); growth retardation with sensorineural deafness and mental retardation; [SMC ]
FAG | Two insulin-like growth factors, 1 and 2 (somatomedins C and A, respectively) show a clear-cut homology with proinsulin and belong to the same multigene family, insulin and somatomedin A genes being positioned in tandem on Chr 11p (GEM:11p155/INS; GEM:11p155/IGF2). The functions of all the three hormones are accomplished via the interactions with corresponding receptors. The receptor genes are mapped: GEM:19p133/INSR; GEM:15q2/IGF1R; GEM:06q253/IGF2R (or cation-independent mannose-6-phosphate receptor)." |
HET | [1] The pygmy dwarfism
mutation (The population of African pygmies; (MIM:265850) is probably
determined by several loci, including that of somatomedin C. [2] A rare syndrome (Werner-like syndrome; MIM:233805) is described, which is resulted from the combined deficiency of three cytokines - insulin (GEM:11p155/INS), somatomedin C, and urogastron (GEM:04q25/EGF)." |
EXP | Two variant peptides, IGFA and IGFB, are produced as a result of alternative splicing." |
REF | LOC,MOL "Brissenden JE &: AJHG, 36, 133S, 1984a LOC,MOL "Brissenden JE &: Nature, 310, 781-784, 1984b REV,GEN,MOP "de Pagter-Holthuizen P &: J Int Med, 225, 37-42, 1989 CLO,SEQ,GEN,MOP "de Pagter-Holthuizen P &: FEBS Lett, 195, N2, 179-184, 1986 REV,FUN,MOP "Hall, Tally: J Int Med, 225, 47-54, 1989 PEP,SEQ,EXP "Han &: J Clin Endocrinol Metab, 66, N2, 422-429, 1988 LOC,MOL "Hoppener JH &: Hum Genet, 69, 157-160, 1985 CLO,SEQ,GEN,MOP "Jansen M &: FEBS Lett, 179, 243-246, 1985 CLO,SEQ,GEN,MOP "Jansen M &: Nature, 306, 609-611, 1983 CLO,SEQ,GEN,MOP "Le Bouc Y &: FEBS Lett, 196, 108-112, 1986 PEP,SEQ,EXP "Li &: PNAS, 80, 2216-2220, 1983 PEP,SEQ,EXP "Mathews LS &: PNAS, 83, N24, 9343-9347, 1986 PAT,PHE,MEB "Merimee LS &: New Engl J Med, 316, 906-911, 1987 PAT,PHE,MEB "Merimee LS &: New Engl J Med, 305, 965-968, 1981 LOC,MOL "Morton CC &: CCG, 41, 245-249, 1986 LOC,MOL "Morton CC &: CCG, 40, (HGM8), 703, 1985 PEP,SEQ,EXP "Rinderknecht E, Humbel: JBC, 253, 2769-2776, 1978 CLO,SEQ,GEN,MOP "Rotwein P &: JBC, 262, N24, 11807-11812, 1987 PEP,SEQ,EXP "Rotwein P &: PNAS, 83, N1, 77-81, 1986 PEP,SEQ,EXP "Svoboda &: Biochemistry, 19, 790-797, 1980 LOC,MOL "Tricoli JV &: AJHG, 36, 121S, 1984a LOC,MOL "Tricoli JV &: Nature, 310, 784-786, 1984b CLO,SEQ,GEN,MOP "Ullrich A &: EMBO J, 3, N2, 361-364, 1984 PEP,SEQ,EXP "Van Wyk &: J Clin Endocrinol Metab, 50, 206-208, 1980 MUT,ASS "Woods KA &: New Engl J Med, 335, N18, 1363-1367, 1996 LOC,MOL "Yang-Feng TL &: CCG, 40, (HGM8), 782, 1985 |
SWI | SWISSPROT: P01343; IGFB P05019 |
KEY | horm, cyk |
CLA | coding, basic |
LOC | 12 q23 |
MIM | MIM: 147440 |
SYN | SMC |
